Canonical Allele Identifier: CA020994

Gene: TSC2

Linked Data

• ClinVar Variation Id: 49820
• ClinVar RCV Id: RCV000043086 ; RCV004537176
• dbSNP Id: rs45517368
• MyVariant Identifiers: chr16:g.2136310C>G (hg19) ; chr16:g.2086309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2086309C>G , CM000678.2:g.2086309C>G	GRCh38
NC_000016.9:g.2136310C>G , CM000678.1:g.2136310C>G	GRCh37
NC_000016.8:g.2076311C>G	NCBI36
NG_005895.1:g.42004C>G , LRG_487:g.42004C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3128C>G	ENSP00000455997.2:n.*3128C>G
ENST00000642206.2:c.4626C>G	ENSP00000495146.2:p.Tyr1542Ter
ENST00000642365.2:c.4776C>G	ENSP00000495459.2:p.Tyr1592Ter
ENST00000644417.2:c.*5292C>G	ENSP00000493912.2:n.*5292C>G
ENST00000646464.2:c.*7528C>G	ENSP00000496610.2:n.*7528C>G
ENST00000219476.9:c.4779C>G MANE Select	ENSP00000219476.3:p.Tyr1593Ter
ENST00000350773.9:c.4710C>G	ENSP00000344383.4:p.Tyr1570Ter
ENST00000401874.7:c.4578C>G	ENSP00000384468.2:p.Tyr1526Ter
ENST00000568454.6:c.4611C>G	ENSP00000454487.1:p.Tyr1537Ter
ENST00000569110.2:c.1002C>G
ENST00000569930.2:n.2661C>G
ENST00000642365.1:c.3433C>G
ENST00000642561.1:c.4650C>G	ENSP00000495099.1:p.Tyr1550Ter
ENST00000642728.1:n.961C>G
ENST00000642791.1:n.376C>G
ENST00000642797.1:c.4581C>G	ENSP00000493846.1:p.Tyr1527Ter
ENST00000642936.1:c.4647C>G	ENSP00000494514.1:p.Tyr1549Ter
ENST00000643088.1:c.4572C>G	ENSP00000494747.1:p.Tyr1524Ter
ENST00000643177.1:n.793C>G
ENST00000643426.1:n.2427C>G
ENST00000643946.1:c.4704C>G	ENSP00000495927.1:p.Tyr1568Ter
ENST00000644043.1:c.4650C>G	ENSP00000496262.1:p.Tyr1550Ter
ENST00000644278.1:n.261C>G
ENST00000644329.1:c.4578C>G	ENSP00000496611.1:p.Tyr1526Ter
ENST00000644335.1:c.4575C>G	ENSP00000496317.1:p.Tyr1525Ter
ENST00000644399.1:c.4700C>G
ENST00000645024.1:n.2863C>G
ENST00000646388.1:c.4773C>G	ENSP00000495921.1:p.Tyr1591Ter
ENST00000646634.1:n.3594C>G
ENST00000646674.1:n.2031C>G
ENST00000647042.1:n.2002C>G
ENST00000647180.1:n.1892C>G
ENST00000219476.7:c.4779C>G	ENSP00000219476.3:p.Tyr1593Ter
ENST00000350773.8:c.4710C>G	ENSP00000344383.4:p.Tyr1570Ter
ENST00000382538.10:c.4434C>G	ENSP00000371978.6:p.Tyr1478Ter
ENST00000401874.6:c.4578C>G	ENSP00000384468.2:p.Tyr1526Ter
ENST00000439117.6:c.*3946C>G	ENSP00000406980.2:n.*3946C>G
ENST00000439673.6:c.4470C>G	ENSP00000399232.2:p.Tyr1490Ter
ENST00000497886.5:n.2537C>G
ENST00000568454.5:c.4611C>G	ENSP00000454487.1:p.Tyr1537Ter
ENST00000569110.1:c.961C>G
ENST00000569930.1:n.1894C>G
NM_000548.3:c.4779C>G , LRG_487t1:c.4779C>G	NP_000539.2:p.Tyr1593Ter
NM_001077183.1:c.4578C>G	NP_001070651.1:p.Tyr1526Ter
NM_001114382.1:c.4710C>G	NP_001107854.1:p.Tyr1570Ter
XM_005255529.3:c.4650C>G	XP_005255586.2:p.Tyr1550Ter
XM_005255531.3:c.4581C>G	XP_005255588.2:p.Tyr1527Ter
XM_011522636.1:c.4833C>G	XP_011520938.1:p.Tyr1611Ter
XM_011522637.1:c.4830C>G	XP_011520939.1:p.Tyr1610Ter
XM_011522638.1:c.4722C>G	XP_011520940.1:p.Tyr1574Ter
XM_011522639.1:c.4704C>G	XP_011520941.1:p.Tyr1568Ter
XM_011522640.1:c.4701C>G	XP_011520942.1:p.Tyr1567Ter
XM_011522641.1:c.4470C>G	XP_011520943.1:p.Tyr1490Ter
NM_000548.4:c.4779C>G	NP_000539.2:p.Tyr1593Ter
NM_001077183.2:c.4578C>G	NP_001070651.1:p.Tyr1526Ter
NM_001114382.2:c.4710C>G	NP_001107854.1:p.Tyr1570Ter
NM_001318827.1:c.4470C>G	NP_001305756.1:p.Tyr1490Ter
NM_001318829.1:c.4434C>G	NP_001305758.1:p.Tyr1478Ter
NM_001318831.1:c.4047C>G	NP_001305760.1:p.Tyr1349Ter
NM_001318832.1:c.4611C>G	NP_001305761.1:p.Tyr1537Ter
NM_001363528.1:c.4581C>G	NP_001350457.1:p.Tyr1527Ter
NM_021055.2:c.4650C>G	NP_066399.2:p.Tyr1550Ter
XM_005255531.4:c.4581C>G	XP_005255588.2:p.Tyr1527Ter
XM_011522636.2:c.4833C>G	XP_011520938.1:p.Tyr1611Ter
XM_011522637.2:c.4830C>G	XP_011520939.1:p.Tyr1610Ter
XM_011522638.2:c.4995C>G	XP_011520940.2:p.Tyr1665Ter
XM_011522639.2:c.4704C>G	XP_011520941.1:p.Tyr1568Ter
XM_011522640.2:c.4701C>G	XP_011520942.1:p.Tyr1567Ter
XM_017023615.1:c.4776C>G	XP_016879104.1:p.Tyr1592Ter
XM_017023616.1:c.4647C>G	XP_016879105.1:p.Tyr1549Ter
XM_017023617.1:c.4743C>G	XP_016879106.1:p.Tyr1581Ter
XM_017023618.1:c.3489C>G	XP_016879107.1:p.Tyr1163Ter
XM_024450413.1:c.4578C>G	XP_024306181.1:p.Tyr1526Ter
NM_000548.5:c.4779C>G MANE Select	NP_000539.2:p.Tyr1593Ter
NM_001370404.1:c.4647C>G	NP_001357333.1:p.Tyr1549Ter
NM_001370405.1:c.4650C>G	NP_001357334.1:p.Tyr1550Ter
NM_001077183.3:c.4578C>G	NP_001070651.1:p.Tyr1526Ter
NM_001114382.3:c.4710C>G	NP_001107854.1:p.Tyr1570Ter
NM_001318827.2:c.4470C>G	NP_001305756.1:p.Tyr1490Ter
NM_001318829.2:c.4434C>G	NP_001305758.1:p.Tyr1478Ter
NM_001318831.2:c.4047C>G	NP_001305760.1:p.Tyr1349Ter
NM_001318832.2:c.4611C>G	NP_001305761.1:p.Tyr1537Ter
NM_001363528.2:c.4581C>G	NP_001350457.1:p.Tyr1527Ter
NM_021055.3:c.4650C>G	NP_066399.2:p.Tyr1550Ter